Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918416
rs121918416
GLRA1 ; LOC112267935
0.010 GeneticVariation BEFREE A mutation (V260M) in the middle of the M2 pore-lining domain of the glycine receptor causes hereditary hyperekplexia. 11781706

2001